BRANCHIOOTORENAL SYNDROME - 4 FAMILIAL CA SES

Branchio-oto-renal syndrome is an inborn disease of autosomal dominant transmission and variable expression, The syndrome associates ear pit s, branchial cleft fistulas or cysts, deafness and renal anomalies hea vily compromising prognosis. We report four adults (2 males, 2 females ) in three different families with branchio-oto-renal syndrome, All 4 probands were seen for renal failure, with hematuria in 2 and proteinu ria in the 2 others, Among the 62 family members examined 19 had at le ast one sign of branchio-oto-renal syndrome, Four pregnancies were fol lowed during the course of the study, only one reached term. The frequ ency of branchio oto-renal syndrome is probably underestimated, Preval ence has been estimated at 1/40,000 births, It accounts for 2% of the cases of severe deafness in children, Neck and ear morphology should t herefore be carefully examined in patients with renal or urinary tract dysplasia, Women with a mild form of the disease with moderate renal failure may give birth to an infant with very severe renal failure lea ding to death either in infancy or in utero due to severe renal agenes ia or hypoplasia.